Linked Data
dbSNP Id:
rs1938664300
gnomAD v4:
12-52519034-T-G
MyVariant Identifiers:
chr12:g.52912818T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519034T>G , CM000674.2:g.52519034T>G | GRCh38 |
| NC_000012.11:g.52912818T>G , CM000674.1:g.52912818T>G | GRCh37 |
| NC_000012.10:g.51199085T>G | NCBI36 |
| NG_008297.1:g.6426A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.682A>C MANE Select | ENSP00000252242.4:p.Arg228= | |
| ENST00000252242.8:c.682A>C | ENSP00000252242.4:p.Arg228= | |
| ENST00000549420.1:c.352A>C | ENSP00000447209.1:p.Arg118= | |
| ENST00000551013.1:n.210A>C | ||
| ENST00000551188.5:c.84A>C | ||
| ENST00000552629.5:n.780A>C | ||
| NM_000424.3:c.682A>C | NP_000415.2:p.Arg228= | |
| NM_000424.4:c.682A>C MANE Select | NP_000415.2:p.Arg228= |